Open AccessA Biallelic Mutation in the Homologous Recombination Repair Gene SPIDR Is Associated With Human Gonadal Dysgenesis
Author(s) -
Pola SmirinYosef,
Nehama ZuckermanLevin,
Shay Tzur,
Yaron Granot,
Lior Cohen,
Juliane Sachsenweger,
Guntram Borck,
Irina Lagovsky,
Mali SalmonDivon,
Lisa Wiesmüller,
Lina BaselVanagaite
Publication year - 2016
Publication title -
the journal of clinical endocrinology and metabolism
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.206
H-Index - 353
eISSN - 1945-7197
pISSN - 0021-972X
DOI - 10.1210/jc.2016-2714
Subject(s) - exome sequencing , context (archaeology) , mutation , biology , genetics , medicine , endocrinology , gene , paleontology
Primary ovarian insufficiency (POI) is caused by ovarian follicle depletion or follicle dysfunction, characterized by amenorrhea with elevated gonadotropin levels. The disorder presents as absence of normal progression of puberty.
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